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人类双链RNA腺苷脱氨酶基因的基因组组织与染色体定位:谷氨酸激活离子通道RNA编辑的酶

Genomic organization and chromosomal location of the human dsRNA adenosine deaminase gene: the enzyme for glutamate-activated ion channel RNA editing.

作者信息

Wang Y, Zeng Y, Murray J M, Nishikura K

机构信息

Wistar Institute, Philadelphia PA 19104, USA.

出版信息

J Mol Biol. 1995 Nov 24;254(2):184-95. doi: 10.1006/jmbi.1995.0610.

DOI:10.1006/jmbi.1995.0610
PMID:7490742
Abstract

The structure of the human gene encoding the double-stranded RNA (dsRNA) adenosine deaminase (DRADA) was characterized. This nuclear localized enzyme is involved in the RNA editing required for the expression of certain subtypes of glutamate-gated ion channel subunits. The DRADA gene span 30 kb pairs and harbors 15 exons. The transcription of the DRADA gene driven by the putative promoter region, which contains no typical TATA or CCAAT box-like sequences, is initiated at multiple sites, 164 to 216 nucleotides upstream of the translation initiation codon. The three dsRNA binding motifs (DRBM), 70 amino acid residues long, are each encoded by two exons plus an intervening sequence that interrupts the motif at the identical amino acid position. This finding is consistent with the notion that the dsRNA binding domains may be composed of two separate functional subdomains. Fluorescent in situ hybridization localized the DRADA gene on the long arm chromosome 1, region q21. The gene structure and sequence information reported in this study will facilitate the investigation of involvement of DRADA in hereditary diseases that may be the result of malfunction of glutamate-gated ion channels.

摘要

对编码双链RNA(dsRNA)腺苷脱氨酶(DRADA)的人类基因结构进行了表征。这种定位于细胞核的酶参与了某些亚型的谷氨酸门控离子通道亚基表达所需的RNA编辑。DRADA基因跨度为30千碱基对,包含15个外显子。由推定的启动子区域驱动的DRADA基因转录,该区域不包含典型的TATA或CCAAT盒样序列,在翻译起始密码子上游164至216个核苷酸的多个位点起始。三个长度为70个氨基酸残基的dsRNA结合基序(DRBM),每个都由两个外显子加上一个在相同氨基酸位置中断该基序的间隔序列编码。这一发现与dsRNA结合域可能由两个独立的功能亚域组成的观点一致。荧光原位杂交将DRADA基因定位在1号染色体长臂q21区域。本研究报道的基因结构和序列信息将有助于研究DRADA在可能由谷氨酸门控离子通道功能异常导致的遗传性疾病中的作用。

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